Canonical Allele Identifier: CA356737304
Gene: PHOX2B HGNC NCBI

Linked Data

gnomAD v4: 4-41746040-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41746040T>C , CM000666.2:g.41746040T>C GRCh38
NC_000004.11:g.41748057T>C , CM000666.1:g.41748057T>C GRCh37
NC_000004.10:g.41442814T>C NCBI36
NG_008243.1:g.7931A>G , LRG_513:g.7931A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.712A>G MANE Select ENSP00000226382.2:p.Lys238Glu
ENST00000226382.3:c.712A>G ENSP00000226382.2:p.Lys238Glu
ENST00000510424.2:n.533A>G
NM_003924.3:c.712A>G , LRG_513t1:c.712A>G NP_003915.2:p.Lys238Glu
NM_003924.4:c.712A>G MANE Select NP_003915.2:p.Lys238Glu